A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia
Makaleler > Tam Makale · 2005
Yazarlar: A GARG, Muhsin Özgür ÇOĞULU, Feriştah Ferda ÖZKINAY, HÜSEYİN ONAY, AK AGARWAL
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 2005, cilt 90, ss 5259-5264
DOI: 10.1210/jc.204.2560
Özet
Context: Mandibuloacral dysplasia ( MAD) is a phenotypically heterogeneous, rare autosomal recessive disorder characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of cranial sutures, joint contractures, lipodystrophy, and mottled cutaneous pigmentation. MAD patients with type A lipodystrophy with loss of sc fat from the extremities and normal or slight excess in the neck and truncal regions have been previously reported to carry a homozygous Arg527His mutation in LMNA (Lamin A/C) gene. Among those with type B pattern of lipodystrophy with generalized loss of sc fat, we recently reported a patient carrying compound heterozygous mutations in an endoprotease, zinc metalloproteinase (ZMPSTE24), gene that is involved in posttranslational processing of prelamin A to mature lamin A.