Case Report

A Prenatally Ascertained De Novo Terminal Deletion of Chromosomal Bands 1q43q44 Associated with Multiple Congenital Abnormalities in a Female Fetus

Table 1

Genes included in the deleted region and associated phenotypes.

Gene/locus nameGene/locus
MIM number
Phenotype/gene function

RGS7 602517Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits
FH,  HLRCC,  MCUL1 136850Leiomyomatosis and renal cell cancer. Fumarase deficiency
KMO 603538Catalyzes the hydroxylation of L-kynurenine (L-Kyn) to form 3-hydroxy-L-kynurenine for synthesis of quinolinic acid
OPN3,  ECPN 606695Opsins are members of the guanine nucleotide-binding protein (G protein)-coupled receptors that are expressed in extraocular tissues
CHML,  REP2 118825Binds unprenylated Rab proteins
EXO1,  HEX1 6060635′->3′ double-stranded DNA exonuclease activity
CEP170,  KIAA0470 613023Plays a role in microtubule organization
SDCCAG8,  CCCAP,  SLSN7 613524Senior-Loken syndrome 7
AKT3,  PKBG,  MPPH 611223Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
ZBTB18,  ZNF238,  RP58,  MRD22 608433Mental retardation, autosomal dominant 22
ADSS 103060Has an important role in the de novo and salvage pathway of purine nucleotide biosynthesis
DESI2,  PPPDE1 614638Protease which may deconjugate SUMO from some substrate proteins
COX20,  FAM36A 614698Protect as-yet-unassembled Cox2 from degradation
HNRNPU 602869Component of the CRD-mediated complex that promotes MYC mRNA stabilization. Binds to pre-mRNA.
KIF26B 614026Essential for embryonic kidney development
SMYD3 608783Histone methyltransferase
TFB2M 607055Required for basal transcription of mitochondrial DNA, probably via its interaction with POLRMT and TFAM
CNST 613439Required for targeting of connexins to the plasma membrane
AHCTF1,  ELYS 610853Required for the assembly of a functional nuclear pore complex on the surface of chromosomes as nuclei form at the end of mitosis
ZNF124 194631Affiliated with the lncRNA class and may be involved in transcriptional regulation
ZNF496,  NIZP1,  ZFP496 613911DNA-binding transcription factor that can both act as an activator and a repressor
NLRP3,  CIAS1,  FCU,  FCAS,  NALP3,  PYPAF1 606416CINCA syndrome, Cold-induced autoinflammatory syndrome, familial Muckle-Wells syndrome
OR13G1 611677Odorant receptor (potential)