Case Report Identification of novel compound heterozygous RECQL4 mutations and prenatal diagnosis of Baller-Gerold syndrome: a case report

Abstract

ABSTRACT. Birth defects are structural and/or functional malformations present at birth that cause physical or mental disability and are important public health problems. Our study was aimed at genetic analysis and prenatal diagnosis of congenital anomalies to understand the cause of certain birth defects. Karyotypes and array-comparative genomic hybridization (aCGH) were performed on a pregnant woman, surrounding amniotic fluid, and her husband. A short-stature panel genetic test was conducted in accordance with the phenotype of the fetus. Following examination, it was determined that the karyotype and aCGH results were normal. The RECQL4 gene in the fetus showed compound heterozygous mutations, and each parent was found to be a carrier of one of the mutations. 4758©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 14 (2): 4757-4766 (2015) in the fetus; therefore, the fetus was predicted to have Baller-Gerold syndrome. These two mutations have not previously been reported. In addition, these results identified a 25% risk of the parents having a second conceptus with this congenital disease. Therefore, prenatal genetic diagnosis was highly recommended for future pregnancies.

Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and ESCO2 Mutations

“…Moreover, 90% (10/11) BGS (10–12, 32, 33, 36) and all RBS (14, 27–29, 34, 35, 37, 38) patients present with radial alterations (hypo/aplasia) and most of them manifest additional upper and lower limb malformations. Pre-axial upper limb defects are similar in BGS and RBS: ulnae hypoplasia, club hands, thumbs aplasia/hypoplasia, clinodactyly, and oligodactyly, though humeral reduction can be also present in RBS.…”

“…Switching back to BGS-RBS phenotypic similarity one has to note that this analysis suffers from the limited number of survived and clinically evaluated BGS individuals (out of 11 cases there are five terminated pregnancies (10, 11, 36) and one death occurred few minutes after birth (10, 32) vs. the much higher number of RBS patients (29 patients >1 year) (14, 29, 34). Such disproportion makes hard to compare the frequency of especially rare clinical findings, such as craniosynostosis, between RBS and BGS patients.…”

Nationwide survey of Baller-Gerold syndrome in Japanese population

“…A molecular study-based diagnosis is powerful tool for genetic counselling of individuals affected by BGS. Cao et al Reported the case of BGS prenatally diagnosed (9). The cases of BGS diagnosed on the basis of molecular genetics should be accumulated.…”

Rothmund-Thomson syndrome, a disorder far from solved

“…One individual developed an extranodal NK/T-cell lymphoma at the age of 2 years and 5 months. Some of the reported individuals died prematurely or were the product of termination of pregnancy, precluding a thorough evaluation of clinical findings, some of which could only be evident during clinical evolution, such as poikiloderma (van Maldergem et al, 2006;Debeljak et al, 2009;Siitonen et al, 2009;Cao et al, 2015;Kaneko et al, 2017).…”