M

 

Mullegama-Klien-Martinez sendromu (MKM)

Kalıtsal – X-linked

Gelişme geriliği

Boy kısa

Mikrosefali

Frontal bölge kabarık

Dış kulak anomalileri

Gözler küçük ve ekzoftalmik

Uzun kirpikler

Burun iri

Yayvan burun sırtı

Garip-üçgensi yüz yapısı

Yüz kas hareketleri asimetrik

Filtrum anomalileri

Dolgun yanaklar

Mikrognati

Dudaklar ince

Yarık dudak

Yarık damak

Kardiyovasküler anomaliler

Skolyoz

Parmak anomalileri

Hipotoni

Psikomotor gerilik

Zeka geriliği

 

  • Mullegama SV, Klein SD, Mulatinho MV, et al. A. De novo loss-of-function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomalies. American Journal of Medical Genetics, 173A: 1319-1327, 2017

  • Mullegama SV, Klein SD, Signer RH, et al. Mutations in STAG2 cause an X-linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: expanding the phenotype in males. Molecular Genetics Genomic Medicine, 7: e00501, 2019.

  • Aoi H, Lei M, Mizuguchi T, et al. Nonsense variants in STAG2 result in distinct sex-dependent phenotypes.  Journal of Human Genetics, 64: 487-492, 2019

  • Yuan B, Neira J, Pehlivan D, et al. Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. Genetics in Medicine, 21: 663-675, 2019