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Bifid nose as the sole manifestation of BNAR syndrome, a FREM1 ‐related condition
Author(s) -
BrischouxBoucher Elise,
Dahlen Eric,
Gronier Céline,
Nobili François,
Marcoux Estelle,
Alkuraya Fowzan S.,
Van Maldergem Lionel
Publication year - 2020
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.13821
Subject(s) - missense mutation , nonsense , nose , nonsense mutation , genetics , medicine , biology , mutation , anatomy , gene
BNAR syndrome (MIM608980) is a very rare condition: nine cases belonging to three unrelated families were reported since its first description in 2002. The distinctive clinical feature is the bifidity of the tip of the nose and its association with anorectal and/or renal anomalies. Its molecular basis consisting of biallelic FREM1 missense or nonsense mutations was elucidated after studying the original Egyptian family and was confirmed in two families originating from Afghanistan and Pakistan. We describe a fourth family originating from Turkey with signs challenging the diagnostic criteria suggested by the description of the three reported families.