A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia


GARG A., Cogulu O. , OZKINAY F. F. , Onay H. , AGARWAL A.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, vol.90, no.9, pp.5259-5264, 2005 (Journal Indexed in SCI) identifier identifier

  • Publication Type: Article / Article
  • Volume: 90 Issue: 9
  • Publication Date: 2005
  • Doi Number: 10.1210/jc.204.2560
  • Title of Journal : JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
  • Page Numbers: pp.5259-5264

Abstract

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.