The Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome (MCAHS) comprises three phenotypes caused by mutations in PIGN, PIGA and PIGT respectively. PIGN and PIGT mutations lead to autosomal recessive disorders whereas PIGA deficiency causes an X-linked lethal disorder. Clinical features are variable dependent on genotypes, often include (neonatal) hypotonia, seizures, various anomalies involving nervous system structural malformations, delayed or lack of psychomotor development, and various congenial organ anomalies.
Maydan G, Noyman I, Har-Zahav A, Neriah ZB, Pasmanik-Chor M, Yeheskel A, Albin-Kaplanski A, Maya I, Magal N, Birk E, Simon AJ, Halevy A, Rechavi G, Shohat M, Straussberg R, Basel-Vanagaite L
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Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN.
van der Crabben SN, Harakalova M, Brilstra EH, van Berkestijn FM, Hofstede FC, van Vught AJ, Cuppen E, Kloosterman W, Ploos van Amstel HK, van Haaften G, van Haelst MM
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Expanding the spectrum of phenotypes associated with germline PIGA mutations: a child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities.
Kvarnung M, Nilsson D, Lindstrand A, Korenke GC, Chiang SC, Blennow E, Bergmann M, Stodberg T, Makitie O, Anderlid BM, Bryceson YT, Nordenskjold M, Nordgren A
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A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT.
