Multiple congenital anomalies-hypotonia-seizures syndrome

Definition:

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.

References:

[1]. Aleksandra Jezela-Stanek, et al. Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes. Eur J Paediatr Neurol. 2016 May;20(3):462-73. [Content Brief]

[2]. Lois J Starr, et al. PIGQ glycosylphosphatidylinositol-anchored protein deficiency: Characterizing the phenotype. Am J Med Genet A. 2019 Jul;179(7):1270-1275. [Content Brief]

[3]. Malin Kvarnung, et al. A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT. J Med Genet. 2013 Aug;50(8):521-8. [Content Brief]

[4]. Saskia N van der Crabben, et al. 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. Am J Med Genet A. 2014 Jan;164A(1):29-35. [Content Brief]

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