M

 

MCAHS sendromları kümesi (multiple congenital anomalies-hypotonia-seizures syndrome)

3 fenotip

Kalıtsal (tip 1 - AR) (tip 2 - XLR) ( tip 3 - AR)

MCAHS1 sendromu

Makrosomi

Kaba yüz yapısı

Hipertelorizm

Nistagmus

Kulak malformasyonları

Yayvan burun

Uzun filtrum

Dudaklar ince

Mikrognati

Çukur damak

Yarık damak

Atrial septum defekti

Anal stenoz

Imperfore anüs

Hidronefroz

Parmaklarda distal segment hipoplazisi

Hipotoni

Psikomotor gerilik

Patolojik refleksler

Epileptic ataklar

Beyin ve serebellum atrofisi

İntrauterine ölüm riski

 

  • Maydan G, Noyman I, Har-Zahav A, et al. Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN. Journal of Medical Genetics, 48: 383-389, 2011

  • Fleming L, Lemmon M, Beck N, et al. Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy. American Journal of Medical Genetics, 170A: 77-86, 2016

  • Knaus A, Pantel JT, Pendziwiat M, et al. Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis. Genome Medicine, 10: 3, 2018

 

MCAHS2 sendromu

Kalıtsal

Aşırı gelişme bulguları

Oksipital çıkıntı belirgin

Boyun kısa

Kaba yüz yapısı

Hipertelorizm

Görme sorunları

Basık burun sırtı

Kaba kulak yapısı

İşitme sorunları

Mikrognati

Ağız küçük ve üçgen biçiminde

Çukur damak

Gingival hiperplazi

Mikrodonti

Minede defekt benekleri

Diastemalar

Mikropenis

Eklem kontraktürleri

Tırnaklar hipoplazik

Epileptik ensefalopati

Psikomotor gerilik

Spastik görünüm

Hipotoni

Beyin ve serebellum anomalileri

Reflekslerde aşırılık

Bebeklik çağı ölümleri

 

  • Johnston JJ, Gropman AL, Sapp JC, et al. The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria. American Journal of Human Genetics, 90: 295-300, 2012

  • Belet S, Fieremans N, Yuan X, et al. Early frameshift mutation in PIGA identified in a large XLID family without neonatal lethality. Human Mutation, 35: 350-355, 2014

  • Kato M, Saitsu H, Murakami Y, et al. PIGA mutations cause early-onset epileptic encephalopathies and distinctive features. Neurology, 82: 1587-1596, 2014

  • Swoboda KJ, Margraf RL, Carey JC, et al. A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload. American Journal of Medical Genetics, 164A: 17-28, 2014

  • Belet S, Fieremans N, Yuan X, et al. Early frameshift mutation in PIGA identified in a large XLID family without neonatal lethality. Human Mutation, 35: 350-355, 2014

 

MCAHS3 sendromu

Asimetrik kafatası

Brakisefali

Alın yüksek

Strabismus

Nistagmus

Basık burun

Uzun-derin filtrum

Çukur damak

Kesici dişlerin eksikliği

Kardiyomyopati

Alkalin fosfataz düşük

Kanda kalsiyum yüksek

Hiperkalsüri

Nefrokalsinoz

Renal kistler

Üreter anomalileri

Osteoporoz

Epileptik ataklar

Beyinde oluşum kusurları

 

  • Maydan G, Noyman I, Har-Zahav A, et al. Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN. Journal of Medical Genetics, 48: 383-389, 2011

  • Kvarnung M, Nilsson D, Lindstrand A, et al. A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT. Journal of Medical Genetics, 50: 521-528, 2013

  • Nakashima M, Kashii H, Murakami Y, et al. Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3. Neurogenetics, 15: 193-200, 2014

  • Fleming L, Lemmon M, Beck N, et al. Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy. American Journal of Medical Genetics, 170A: 77-86, 2016

  • McInerney-Leo AM, Harris JE, Gattas M, et al. Fryns syndrome associated with recessive mutations in PIGN in two separate families. Human Mutation, 37: 695-702, 2016