TY - JOUR
T1 - Mandibuloacral dysplasia with type B lipodystrophy in a patient from Chile
AU - Alarcón, Pablo I.
AU - Mujica, Ignacia
AU - Sanz, Patricia
AU - García, Cristian J.
AU - Gilgenkrantz, Simone
N1 - Publisher Copyright:
© 2019 Wiley Periodicals, Inc.
PY - 2019/6
Y1 - 2019/6
N2 - We report the first case of mandibuloacral dysplasia with type B lipodystrophy (MADB) in Chile, South America. MADB is a very rare illness, characterized by short stature, mandibular hypoplasia, acro-osteolysis in hands, feet and clavicles, lipodystrophy, changes in skin pigments and skin calcinosis at knees and hands. Diagnosis was confirmed by molecular study that showed two compound heterozygous variants in ZMPSTE24 gene, c.1085dup p.(Leu362Phefs*19) and c.794A>G p.(Asn265Ser). This article could help in establishing the correlation between genotype and phenotype of this disorder, comparing with other cases previously described.
AB - We report the first case of mandibuloacral dysplasia with type B lipodystrophy (MADB) in Chile, South America. MADB is a very rare illness, characterized by short stature, mandibular hypoplasia, acro-osteolysis in hands, feet and clavicles, lipodystrophy, changes in skin pigments and skin calcinosis at knees and hands. Diagnosis was confirmed by molecular study that showed two compound heterozygous variants in ZMPSTE24 gene, c.1085dup p.(Leu362Phefs*19) and c.794A>G p.(Asn265Ser). This article could help in establishing the correlation between genotype and phenotype of this disorder, comparing with other cases previously described.
KW - ZMPSTE24
KW - acro-osteolysis
KW - lipodystrophy
KW - mandibuloacral dysplasia
KW - progeria
UR - http://www.scopus.com/inward/record.url?scp=85063625766&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.61139
DO - 10.1002/ajmg.a.61139
M3 - Article
C2 - 30919593
AN - SCOPUS:85063625766
SN - 1552-4825
VL - 179
SP - 893
EP - 895
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 6
ER -