Nestor-Guillermo progeria syndrome

Last updated
Nestor-Guillermo progeria syndrome
Other namesNGPS, PSCOO, Progeria syndrome childhood-onset with osteolysis [1]
Specialty Medical genetics
Symptoms premature aging
Causesmutations in the BANF1 gene, in chromosome 11

Nestor-Guillermo progeria syndrome is an extremely rare novel genetic disorder that is part of a group of syndromes called progeria. This disorder is characterized by the same symptoms of other progeria syndromes, which are premature aging with accompanying aged physical appearance, osteolysis, osteoporosis, scoliosis and lipoatrophy, however, what makes this disorder unique from other progeroid syndromes is the absence of any atherosclerotic, cardiovascular, and metabolic symptoms/complications, this makes the life-span of a person with NGPS somewhat longer than the average life-span of someone with progeria itself, although in place of the complications mentioned above, there's also additional symptoms, such as joint stiffness, growth retardation, facial dysmorphisms, wide cranial sutures, micrognathia, atrophic skin and a high risk of developing severe skeletal abnormalities [2] [3] [4]

This syndrome is caused by mutations in the BANF1 gene, in chromosome 11q13.1, and is inherited in an autosomal recessive pattern [5] [6] [7] [8] [9]

Discovery

This rare disorder was discovered when 2 seemingly healthy twin boys named Nestor and Guillermo were born in Spain, starting at the age of 2, they rapidly started aging, when they were 10 years old, they had lost their hair, their skin started wrinkling, their bones started weaking and their stature barely increased, it was clear they had progeria; however, their doctors couldn't find what type of progeria they had, since they didn't present cardiovascular abnormalities and they didn't have the known genetic mutations of the mentioned progeroid syndromes, that's when their shared genetic mutations (BANF1) were discovered, and with that discovery came the revelation of a novel progeroid syndrome, by 2011, they were already 20–30 years old. [10] [11]

Related Research Articles

<span class="mw-page-title-main">Progeria</span> Genetic disorder that causes early aging

Progeria is a specific type of progeroid syndrome, also known as Hutchinson–Gilford syndrome or Hutchinson–Gilford progeroid syndrome (HGPS). A single gene mutation is responsible for causing progeria. The affected gene, known as lamin A (LMNA), makes a protein necessary for holding the cell nucleus together. When this gene mutates, an abnormal form of lamin A protein called progerin is produced. Progeroid syndromes are a group of diseases that cause individuals to age faster than usual, leading to them appearing older than they actually are. People born with progeria typically live until their mid- to late-teens or early twenties. Severe cardiovascular complications usually develop by puberty, later on resulting in death.

<span class="mw-page-title-main">Noonan syndrome</span> Genetic condition involving facial, heart, blood and skeletal features

Noonan syndrome (NS) is a genetic disorder that may present with mildly unusual facial features, short height, congenital heart disease, bleeding problems, and skeletal malformations. Facial features include widely spaced eyes, light-colored eyes, low-set ears, a short neck, and a small lower jaw. Heart problems may include pulmonary valve stenosis. The breast bone may either protrude or be sunken, while the spine may be abnormally curved. Intelligence is often normal. Complications of NS can include leukemia.

<span class="mw-page-title-main">Barakat syndrome</span> Disease characterized by hypoparathyroidism, sensorineural deafness and renal disease

Barakat syndrome is a rare disease characterized by hypoparathyroidism, sensorineural deafness and renal disease, and hence also known as HDR syndrome. It is an autosomal dominant condition with incomplete penetrance and variable expressivity that was first described by Amin J. Barakat et al. in 1977.

<span class="mw-page-title-main">GAPO syndrome</span> Medical condition

GAPO syndrome is a rare, autosomal recessive disorder that causes severe growth retardation, and has been observed fewer than 30 times before 2011. GAPO is an acronym that encompasses the predominant traits of the disorder: growth retardation, alopecia, pseudoanodontia, and worsening optic atrophy in some subjects. Other common symptoms include premature aging, large, prominent foreheads, and delayed bone aging. GAPO syndrome typically results in premature death around age 30–40, due to interstitial fibrosis and atherosclerosis.

<span class="mw-page-title-main">Simpson–Golabi–Behmel syndrome</span> Congenital disorder

Simpson–Golabi–Behmel syndrome (SGBS) is a rare inherited congenital disorder that can cause craniofacial, skeletal, vascular, cardiac, and renal abnormalities. There is a high prevalence of cancer associated in those with SGBS which includes wilms tumors, neuroblastoma, tumors of the adrenal gland, liver, lungs and abdominal organs. The syndrome is inherited in an X-linked recessive manner. Females that possess one copy of the mutation are considered to be carriers of the syndrome but may still express varying degrees of the phenotype, suffering mild to severe malady. Males experience a higher likelihood of fetal death.

A DNA repair-deficiency disorder is a medical condition due to reduced functionality of DNA repair.

Enquiry into the evolution of ageing, or aging, aims to explain why a detrimental process such as ageing would evolve, and why there is so much variability in the lifespans of organisms. The classical theories of evolution suggest that environmental factors, such as predation, accidents, disease, and/or starvation, ensure that most organisms living in natural settings will not live until old age, and so there will be very little pressure to conserve genetic changes that increase longevity. Natural selection will instead strongly favor genes which ensure early maturation and rapid reproduction, and the selection for genetic traits which promote molecular and cellular self-maintenance will decline with age for most organisms.

<span class="mw-page-title-main">Laminopathy</span> Medical condition

Laminopathies are a group of rare genetic disorders caused by mutations in genes encoding proteins of the nuclear lamina. Since the first reports of laminopathies in the late 1990s, increased research efforts have started to uncover the vital role of nuclear envelope proteins in cell and tissue integrity in animals. Laminopathies are a group of degenerative diseases, other disorders associated with inner nuclear membrane proteins are known as nuclear envelopathies.

<span class="mw-page-title-main">Prelamin-A/C</span> Filament protein

Prelamin-A/C, or lamin A/C is a protein that in humans is encoded by the LMNA gene. Lamin A/C belongs to the lamin family of proteins.

<span class="mw-page-title-main">Ablepharon macrostomia syndrome</span> Medical condition

Ablepharon macrostomia syndrome (AMS) is an extremely rare, autosomal dominant genetic disorder characterized by abnormal phenotypic appearances that primarily affect the head and face as well as the skull, skin, fingers and genitals. AMS generally results in abnormal ectoderm-derived structures. The most prominent abnormality is the underdevelopment (microblepharon) or absence of eyelids – signifying the ablepharon aspect of the disease – and a wide, fish-like mouth – macrostomia. Recent scholars and surgeons have called into question the naming of the condition as "Ablepharon" on account of recent investigation and histology showing consistent evidence of at least some eyelid tissue. Infants presenting with AMS may also have malformations of the abdominal wall and nipples. Children with AMS might also experience issues with learning development, language difficulties and intellectual disabilities.

<span class="mw-page-title-main">Lonafarnib</span> Medication investigated as a treatment for progeria

Lonafarnib, sold under the brand name Zokinvy, is a medication used to reduce the risk of death due to Hutchinson-Gilford progeria syndrome and for the treatment of certain processing-deficient progeroid laminopathies in people one year of age and older. It is under trial for its use as combination treatment for Hepatitis D Virus.

ZMPSTE24 is a human gene. The protein encoded by this gene is a metallopeptidase. It is involved in the processing of lamin A. Defects in the ZMPSTE24 gene lead to similar laminopathies as defects in lamin A, because the latter is a substrate for the former. In humans, a mutation abolishing the ZMPSTE24 cleavage site in prelamin A causes a progeroid disorder. Failure to correctly process prelamin A leads to deficient ability to repair DNA double-strand breaks.

<span class="mw-page-title-main">Gerodermia osteodysplastica</span> Medical condition

Gerodermia osteodysplastica (GO) is a rare autosomal recessive connective tissue disorder included in the spectrum of cutis laxa syndromes.

<span class="mw-page-title-main">Lujan–Fryns syndrome</span> Medical condition

Lujan–Fryns syndrome (LFS) is an X-linked genetic disorder that causes mild to moderate intellectual disability and features described as Marfanoid habitus, referring to a group of physical characteristics similar to those found in Marfan syndrome. These features include a tall, thin stature and long, slender limbs. LFS is also associated with psychopathology and behavioral abnormalities, and it exhibits a number of malformations affecting the brain and heart. The disorder is inherited in an X-linked dominant manner, and is attributed to a missense mutation in the MED12 gene. There is currently no treatment or therapy for the underlying MED12 malfunction, and the exact cause of the disorder remains unclear.

<span class="mw-page-title-main">De Barsy syndrome</span> Medical condition

De Barsy syndrome is a rare autosomal recessive genetic disorder. Symptoms include cutis laxa as well as other eye, musculoskeletal, and neurological abnormalities. It is usually progressive, manifesting side effects that can include clouded corneas, cataracts, short stature, dystonia, or progeria.

Progeroid syndromes (PS) are a group of rare genetic disorders that mimic physiological aging, making affected individuals appear to be older than they are. The term progeroid syndrome does not necessarily imply progeria, which is a specific type of progeroid syndrome.

<span class="mw-page-title-main">Lizzie Velásquez</span> American motivational speaker, activist, author, and YouTuber (born 1989)

Elizabeth Anne Velásquez is an American motivational speaker, activist, writer, and YouTuber. She was born with an extremely rare congenital disease called Marfanoid–progeroid–lipodystrophy syndrome that, among other symptoms, prevents her from accumulating body fat and gaining weight. Her conditions resulted in bullying during her childhood. During her teenage years, she faced cyberbullying, which ultimately inspired her to take up motivational speaking.

<span class="mw-page-title-main">MDP syndrome</span> Medical condition

MDP syndrome, also known as mandibular dysplasia with deafness and progeroid features, is an extremely rare metabolic disorder that prevents fatty tissue from being stored underneath the skin. It is only known to affect a very small number of people worldwide. Recent research has suggested that it may be caused by an abnormality of the POLD1 gene on chromosome 19, which causes an enzyme crucial to DNA replication to be defective.

<span class="mw-page-title-main">Marfanoid–progeroid–lipodystrophy syndrome</span> Medical condition

Marfanoid–progeroid–lipodystrophy syndrome (MPL), also known as Marfan lipodystrophy syndrome (MFLS) or progeroid fibrillinopathy, is an extremely rare medical condition which manifests as a variety of symptoms including those usually associated with Marfan syndrome, an appearance resembling that seen in neonatal progeroid syndrome, and severe partial lipodystrophy. It is a genetic condition that is caused by mutations in the FBN1 gene, which encodes profibrillin, and affects the cleavage products of profibrillin, fibrillin-1, a fibrous structural protein, and asprosin, a glucogenic protein hormone. As of 2016, fewer than 10 cases of the condition have been reported. Lizzie Velásquez and Abby Solomon have become known publicly through the media for having the condition.

Thai symphalangism syndrome is a novel genetic disorder which is characterized by proximal and distal symphalangism of the fingers, postaxial polydactyly, hypodontia, ear dysplasia, blepharoptosis, short stature, toe distal phalange agenesis, and frenula hyperplasia.

References

  1. ↑ "Nestor-guillermo progeria syndrome".
  2. ↑ "Nestor-guillermo progeria syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2022-05-04.
  3. ↑ Fisher, Heather G.; Patni, Nivedita; Scheuerle, Angela E. (2020). "An additional case of Néstor‐Guillermo progeria syndrome diagnosed in early childhood". American Journal of Medical Genetics Part A. 182 (10): 2399–2402. doi:10.1002/ajmg.a.61777. PMID   32783369. S2CID   221108970.
  4. ↑ "Síndrome Progeroide de Néstor-Guillermo - Asociación AELIP".
  5. ↑ Cabanillas, Rubén; Cadiñanos, Juan; Villameytide, José A. F.; Pérez, Mercedes; Longo, Jesús; Richard, José M.; Alvarez, Rebeca; Durán, Noelia S.; Illán, Rafael; González, Daniel J.; López-Otín, Carlos (November 2011). "Néstor-Guillermo progeria syndrome: a novel premature aging condition with early onset and chronic development caused by BANF1 mutations". American Journal of Medical Genetics. Part A. 155A (11): 2617–2625. doi:10.1002/ajmg.a.34249. ISSN   1552-4833. PMID   21932319. S2CID   43168324.
  6. ↑ Cabanillas, Rubén; Cadiñanos, Juan; Villameytide, José A.F.; Pérez, Mercedes; Longo, Jesús; Richard, José M.; Álvarez, Rebeca; Durán, Noelia S.; Illán, Rafael; González, Daniel J.; López-Otín, Carlos (2011). "Néstor-Guillermo progeria syndrome: A novel premature aging condition with early onset and chronic development caused by BANF1 mutations". American Journal of Medical Genetics Part A. 155 (11): 2617–2625. doi:10.1002/ajmg.a.34249. PMID   21932319. S2CID   43168324.
  7. ↑ Cabanillas, Rubén; Cadiñanos, Juan; Villameytide, José A.F.; Pérez, Mercedes; Longo, Jesús; Richard, José M.; Álvarez, Rebeca; Durán, Noelia S.; Illán, Rafael; González, Daniel J.; López-Otín, Carlos (2011). "Néstor-Guillermo progeria syndrome: A novel premature aging condition with early onset and chronic development caused by BANF1 mutations". American Journal of Medical Genetics Part A. 155 (11): 2617–2625. doi:10.1002/ajmg.a.34249. PMID   21932319. S2CID   43168324.
  8. ↑ "OMIM Entry - # 614008 - NESTOR-GUILLERMO PROGERIA SYNDROME; NGPS".
  9. ↑ "Pruebas genéticas - Progeria de Nestor-Guillermo, Síndrome de ..., (Nestor-Guillermo Progeria syndrome) – Gen BANF1. - IVAMI".
  10. ↑ "La enfermedad de Néstor y Guillermo". abc (in Spanish). 2011-05-06. Retrieved 2022-05-04.
  11. ↑ "Describen un nuevo tipo de envejecimiento acelerado en dos pacientes españoles || elmundo.es".
This page is based on this Wikipedia article
Text is available under the CC BY-SA 4.0 license; additional terms may apply.
Images, videos and audio are available under their respective licenses.