Related Research Articles
Serine is an α-amino acid that is used in the biosynthesis of proteins. It contains an α-amino group, a carboxyl group, and a side chain consisting of a hydroxymethyl group, classifying it as a polar amino acid. It can be synthesized in the human body under normal physiological circumstances, making it a nonessential amino acid. It is encoded by the codons UCU, UCC, UCA, UCG, AGU and AGC.
Holoprosencephaly (HPE) is a cephalic disorder in which the prosencephalon fails to develop into two hemispheres, typically occurring between the 18th and 28th day of gestation. Normally, the forebrain is formed and the face begins to develop in the fifth and sixth weeks of human pregnancy. The condition also occurs in other species.
Porencephaly is an extremely rare cephalic disorder involving encephalomalacia. It is a neurological disorder of the central nervous system characterized by cysts or cavities within the cerebral hemisphere. Porencephaly was termed by Heschl in 1859 to describe a cavity in the human brain. Derived from Greek roots, the word porencephaly means 'holes in the brain'. The cysts and cavities are more likely to be the result of destructive (encephaloclastic) cause, but can also be from abnormal development (malformative), direct damage, inflammation, or hemorrhage. The cysts and cavities cause a wide range of physiological, physical, and neurological symptoms. Depending on the patient, this disorder may cause only minor neurological problems, without any disruption of intelligence, while others may be severely disabled or die before the second decade of their lives. However, this disorder is far more common within infants, and porencephaly can occur both before or after birth.
Septo-optic dysplasia (SOD), known also as de Morsier syndrome, is a rare congenital malformation syndrome that features a combination of the underdevelopment of the optic nerve, pituitary gland dysfunction, and absence of the septum pellucidum . Two or more of these features need to be present for a clinical diagnosis—only 30% of patients have all three. French-Swiss doctor Georges de Morsier first recognized the relation of a rudimentary or absent septum pellucidum with hypoplasia of the optic nerves and chiasm in 1956.
MASA syndrome is a rare X-linked recessive neurological disorder on the L1 disorder spectrum belonging in the group of hereditary spastic paraplegias a paraplegia known to increase stiffness spasticity in the lower limbs. This syndrome also has two other names, CRASH syndrome and Gareis-Mason syndrome.
Polymicrogyria (PMG) is a condition that affects the development of the human brain by multiple small gyri (microgyri) creating excessive folding of the brain leading to an abnormally thick cortex. This abnormality can affect either one region of the brain or multiple regions.
Pachygyria is a congenital malformation of the cerebral hemisphere. It results in unusually thick convolutions of the cerebral cortex. Typically, children have developmental delay and seizures, the onset and severity depending on the severity of the cortical malformation. Infantile spasms are common in affected children, as is intractable epilepsy.
MERRF syndrome is a mitochondrial disease. It is extremely rare, and has varying degrees of expressivity owing to heteroplasmy. MERRF syndrome affects different parts of the body, particularly the muscles and nervous system. The signs and symptoms of this disorder appear at an early age, generally childhood or adolescence. The causes of MERRF syndrome are difficult to determine, but because it is a mitochondrial disorder, it can be caused by the mutation of nuclear DNA or mitochondrial DNA. The classification of this disease varies from patient to patient, since many individuals do not fall into one specific disease category. The primary features displayed on a person with MERRF include myoclonus, seizures, cerebellar ataxia, myopathy, and ragged red fibers (RRF) on muscle biopsy, leading to the disease's name. Secondary features include dementia, optic atrophy, bilateral deafness, peripheral neuropathy, spasticity, or multiple lipomata. Mitochondrial disorders, including MERRFS, may present at any age.
Mowat–Wilson syndrome is a rare genetic disorder that was clinically delineated by David R. Mowat and Meredith J. Wilson in 1998. The condition affects both males and females, has been described in various countries and ethnic groups around the world, and occurs in approximately 1 in 50,000–100,000 births.
CDKL5 is a gene that provides instructions for making a protein called cyclin-dependent kinase-like 5 also known as serine/threonine kinase 9 (STK9) that is essential for normal brain development. Mutations in the gene can cause deficiencies in the protein. The gene regulates neuronal morphology through cytoplasmic signaling and controlling gene expression. The CDKL5 protein acts as a kinase, which is an enzyme that changes the activity of other proteins by adding a cluster of oxygen and phosphorus atoms at specific positions. Researchers are currently working to determine which proteins are targeted by the CDKL5 protein.
Sodium channel protein type 1 subunit alpha (SCN1A), is a protein which in humans is encoded by the SCN1A gene.
Neutral amino acid transporter A is a protein that in humans is encoded by the SLC1A4 gene. In humans, it is expressed in the brain, lung, skeletal muscle, intestine and kidney.
Coiled-coil domain-containing protein 55 is a protein that in humans is encoded by the CCDC55 gene. It is now known as nuclear speckle splicing regulatory protein 1. The HGNC approved gene name is NSRP1.
Mitochondrially encoded tRNA phenylalanine also known as MT-TF is a transfer RNA which in humans is encoded by the mitochondrial MT-TF gene.
Pitt–Hopkins syndrome (PTHS) is a rare genetic disorder characterized by developmental delay, epilepsy, distinctive facial features, and possible intermittent hyperventilation followed by apnea. Pitt–Hopkins syndrome can be marked by intellectual disabilities as well as problems with socializing. It is part of the clinical spectrum of Rett-like syndromes.
Kohlschütter–Tönz syndrome (KTS), also called amelo-cerebro-hypohidrotic syndrome, is a rare inherited syndrome characterized by epilepsy, psychomotor delay or regression, intellectual disability, and yellow teeth caused by amelogenesis imperfecta. It is a type A ectodermal dysplasia.
Andermann syndrome, also known as agenesis of corpus callosum with neuronopathy (ACCPN), Charlevoix disease and KCC3 axonopathy among other names, is a very rare neurodegenerative genetic disorder that damages the nerves used to control muscles and related to sensation and is often associated with agenesis of the corpus callosum.
Proud syndrome is a very rare genetic disorder which is characterized by severe intellectual disabilities, corpus callosum agenesis, epilepsy, and spasticity. It is a type of syndromic X-linked intellectual disability.
Severe intellectual disability-progressive spastic diplegia syndrome is a rare novel genetic disorder characterized by severe intellectual disabilities, ataxia, craniofacial dysmorphisms, and muscle spasticity. It is a type of autosomal dominant syndromic intellectual disability.
X-linked complicated corpus callosum dysgenesis is a genetic disorder characterized by dysplasia, hypoplasia or agenesis of the corpus callosum alongside variable intellectual disability and spastic paraplegia. Only 13 cases have been described in medical literature. Transmission is X-linked recessive. It is the mildest subtype of L1 syndrome.
References
- 1 2 3 4 5 6 7 Damseh N, Simonin A, Jalas C, Picoraro JA, Shaag A, Cho MT, et al. (August 2015). "Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination". Journal of Medical Genetics. 52 (8): 541–547. doi:10.1136/jmedgenet-2015-103104. PMID 26041762.
- 1 2 El-Hattab AW (July 2016). "Serine biosynthesis and transport defects". Molecular Genetics and Metabolism. 118 (3): 153–159. doi:10.1016/j.ymgme.2016.04.010. PMID 27161889.
- 1 2 3 Mohamed FE, Ghattas MA, Almansoori TM, Tabouni M, Baydoun I, Kizhakkedath P, et al. (2023-07-12). "Novel compound heterozygous variants (c.971delA/c.542C > T) in SLC1A4 causes spastic tetraplegia, thin corpus callosum, and progressive microcephaly: a case report and mutational analysis". Frontiers in Pediatrics. 11: 1183574. doi: 10.3389/fped.2023.1183574 . PMC 10369183 . PMID 37502193.
- 1 2 Abdelrahman HA, Al-Shamsi A, John A, Ali BR, Al-Gazali L (2019-01-01). "A Novel SLC1A4 Mutation (p.Y191*) Causes Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly (SPATCCM) With Seizure Disorder". Child Neurology Open. 6: 2329048X19880647. doi:10.1177/2329048X19880647. PMC 6852354 . PMID 31763347.
- 1 2 Conroy J, Allen NM, Gorman K, O'Halloran E, Shahwan A, Lynch B, et al. (August 2016). "Novel European SLC1A4 variant: infantile spasms and population ancestry analysis". Journal of Human Genetics. 61 (8): 761–764. doi:10.1038/jhg.2016.44. PMID 27193218.
- ↑ Pujol-Giménez J, Mirzaa G, Blue EE, Albano G, Miller DE, Allworth A, et al. (June 2023). "Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome". Annals of Clinical and Translational Neurology. 10 (6): 1046–1053. doi:10.1002/acn3.51786. PMC 10270265 . PMID 37194416.
- 1 2 Srour M, Hamdan FF, Gan-Or Z, Labuda D, Nassif C, Oskoui M, et al. (July 2015). "A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly". Clinical Genetics. 88 (1): e1–e4. doi:10.1111/cge.12605. PMID 25930971.
- 1 2 Sarigecili E, Bulut FD, Anlas O (July 2022). "A rare cause of microcephaly, thin corpus callosum and refractory epilepsy due to a novel SLC1A4 gene mutation". Clinical Neurology and Neurosurgery. 218: 107283. doi:10.1016/j.clineuro.2022.107283. PMID 35605507.
- ↑ Pironti E, Salpietro V, Cucinotta F, Granata F, Mormina E, Efthymiou S, et al. (December 2018). "A novel SLC1A4 homozygous mutation causing congenital microcephaly, epileptic encephalopathy and spastic tetraparesis: a video-EEG and tractography - case study". Journal of Neurogenetics. 32 (4): 316–321. doi:10.1080/01677063.2018.1476510. PMID 29989513.
- 1 2 Odeh M, Sajrawi C, Majcher A, Zubedat S, Shaulov L, Radzishevsky A, et al. (April 2024). "A new type of blood-brain barrier aminoacidopathy underlies metabolic microcephaly associated with SLC1A4 mutations". Brain. doi:10.1093/brain/awae134. PMID 38662784.