Werner syndrome in a Lebanese family
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Werner syndrome in a Lebanese family. / Jaafar, Batoul; Nasrallah, Mona; Sievers, Bianca; Oshima, Junko; Lessel, Davor.
In: AM J MED GENET A, Vol. 188, No. 5, 05.2022, p. 1630-1634.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Werner syndrome in a Lebanese family
AU - Jaafar, Batoul
AU - Nasrallah, Mona
AU - Sievers, Bianca
AU - Oshima, Junko
AU - Lessel, Davor
N1 - American Journal of Medical Genetics Part A© 2022 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.
PY - 2022/5
Y1 - 2022/5
N2 - Werner syndrome (WS) is an extremely rare, autosomal recessive segmental progeroid disorder caused by biallelic pathogenic variants in the WRN, which encodes a multifunctional nuclear protein that belongs to the RecQ family of DNA helicases. Despite extensive research on WS in the last years, the population-specific mutational spectrum still needs to be elucidated. Moreover, there is an evident lack of detailed clinical descriptions accompanied with photographs of affected individuals. Here, we report a consanguineous Lebanese family in whom we identified a pathogenic homozygous nonsense variant c.1111G>T, p.Glu371* in the WRN. The index individual, at the age of 54 years, was suspected to have WS due to a history of early-onset cataracts, premature hair loss and graying, chronic nonhealing leg ulcers, Achilles' tendon calcifications, type 2 diabetes mellitus, dyslipidemia, hypothyroidism, and premature coronary artery disease. His four sisters, three of which deceased in the fifth decade, had clinical signs suggestive of WS. Moreover, his daughter, aged 23 years, had short stature, hair loss and flat feet. Taken together, we report a detailed clinical course of disease in several affected members of a consanguineous family, which is additionally documented by photographs.
AB - Werner syndrome (WS) is an extremely rare, autosomal recessive segmental progeroid disorder caused by biallelic pathogenic variants in the WRN, which encodes a multifunctional nuclear protein that belongs to the RecQ family of DNA helicases. Despite extensive research on WS in the last years, the population-specific mutational spectrum still needs to be elucidated. Moreover, there is an evident lack of detailed clinical descriptions accompanied with photographs of affected individuals. Here, we report a consanguineous Lebanese family in whom we identified a pathogenic homozygous nonsense variant c.1111G>T, p.Glu371* in the WRN. The index individual, at the age of 54 years, was suspected to have WS due to a history of early-onset cataracts, premature hair loss and graying, chronic nonhealing leg ulcers, Achilles' tendon calcifications, type 2 diabetes mellitus, dyslipidemia, hypothyroidism, and premature coronary artery disease. His four sisters, three of which deceased in the fifth decade, had clinical signs suggestive of WS. Moreover, his daughter, aged 23 years, had short stature, hair loss and flat feet. Taken together, we report a detailed clinical course of disease in several affected members of a consanguineous family, which is additionally documented by photographs.
U2 - 10.1002/ajmg.a.62654
DO - 10.1002/ajmg.a.62654
M3 - SCORING: Journal article
C2 - 35037378
VL - 188
SP - 1630
EP - 1634
JO - AM J MED GENET A
JF - AM J MED GENET A
SN - 1552-4825
IS - 5
ER -