Introduction:
Here, we present an inborn syndromic (Bardet-Biedl syndrome and Meckel syndrome) female girl, who has multiple organ defects. The proband was a spontaneous vaginal normal delivery, body weight was 3.1 kg and head circumference was 33.2 cm (25th percentile). Phenotypical anomalies at birth were bilateral wrist drop, joint contractures, left Congenital talipes equinovarus (CTEV), polydactyly (digit anomalies), hypertelorism, microphthalmia, and retrognathia. Following X-ray radiography, we notice bilateral ventricular dilatation, dextrocardia, and renal pelvicalyceal dilation. During our continuous clinical observation, we found developmental delays such as; partial neck holding, hydrocephalus, dysmorphism, lower respiratory tract infection, left eventration of the diaphragm, high arched palate, low set ears, widespread nipples, and bilateral renal pelvic dilation. Family history revealed an elder female sibling expired with the same phenotypic features with dysplastic kidney and renal failure within three months of birth. The parents have 2nd degree of consanguinity in marriage. The male had three elder brothers and one sister and the first elder brother had a digit anomaly and died within the first decade of his life. On the maternal side, the elder sister also had digit anomalies and, intellectual disability, and currently she is in the third decade of life without any medical examination/treatment. To get an insight into the role of various genes involved in the syndrome; blood was collected from the proband and their parents. The proband died within 18 months of birth.
Methods:
Genomic DNA from the proband was subjected to whole exome sequencing to identify genes that are mutated in the patient.
Results:
Results revealed mutations in genes that were previously associated with both, Bardet-Biedl syndrome (BBS) and Meckel syndrome (MKS) such as BBS4 (p.I182T), BBS6(p.R517C, p.G532V), BBS9(p.A455T), BBS10(p.P539L), BBS12(p.R386Q, p.D467N), KIF7(p.T368A, p.D52N) and TMEM67(p.I523V), RPGRIP1L(p.R744Q), CEP290(p.R1746Q), B9D1(p.P167L), B9D2(p.I11M), TCTN1(p.S154N),TMEM231(p.L6V), TMEM216(p.R86T), CEP55(p.H57Q, p.T99A, p.H378L). We have also identified the following novel mutations in genes such as BBS2 (exon11:c.C1237T:p.R413X) and RPGRIP1(exon 5: c.A574G:p.K192E), EXOC3L2(exon12:c.G2372A:p.R791Q). In addition to this, we noticed 16 and 92 genes have start loss and stop gain mutations respectively.
Conclusions:
Presenting this rare combination of diseases and associating the disease with novel genes and mutations will be helpful to the clinical/scientific community.
I have no potential conflict of interest to disclose.
I did not use generative AI and AI-assisted technologies in the writing process.