Abstract
BackgroundMicrodeletions at 17q11.2 often encompass NF1 gene, is the cause for NF1 microdeletion syndrome. Microdeletion at 17q11.2 without the involvement of NF1 gene is rarely reported.Case presentationHere we reported a patient carrying a novel de novo deletion at 17q11.2 adjacent to NF1 gene, who presented with developmental delay, short stature, postnatal microcephaly, underweight and dysmorphic features including flat facial profile, dolicocephaly, hypertelorism, short philtrum, flat nasal bridge and posteriorly rotated and low set ears. Chromosomal microarray analysis revealed a 1.69 Mb de novo deletion at 17q11.2 adjacent to NF1 gene, which involves 43 RefSeq genes. We compared this with four overlapping deletions at this interval.ConclusionsA rare de novo microdeletion at 17q11.2 not involving NF1 gene is associated with developmental delay and dysmorphic features. Seven genes, TAOK1, PHF12, NUFIP2, SLC26A4, SEZ6, GIT1 and TRAF4 are possible candidates for the clinical features of our patient. The delineation of this rare deletion and description of associated clinical phenotypes will help to understand the genotype-phenotype correlation of genomic imbalances at this locus.
Highlights
Microdeletions at 17q11.2 often encompass neurofibromatosis type1 (NF1) gene, is the cause for NF1 microdeletion syndrome
A rare de novo microdeletion at 17q11.2 not involving NF1 gene is associated with developmental delay and dysmorphic features
Microdeletions at 17q11.2 region often involve a heterozygous 1.5 Mb deletion including NF1 gene, known as NF1 microdeletion syndrome, which is responsible for 5–20 % of all patients with neurofibromatosis type
Summary
Microdeletions at 17q11.2 often encompass NF1 gene, is the cause for NF1 microdeletion syndrome. Case presentation: Here we reported a patient carrying a novel de novo deletion at 17q11.2 adjacent to NF1 gene, who presented with developmental delay, short stature, postnatal microcephaly, underweight and dysmorphic features including flat facial profile, dolicocephaly, hypertelorism, short philtrum, flat nasal bridge and posteriorly rotated and low set ears. Chromosomal microarray analysis revealed a 1.69 Mb de novo deletion at 17q11.2 adjacent to NF1 gene, which involves 43 RefSeq genes. Microdeletions at 17q11.2 region often involve a heterozygous 1.5 Mb deletion including NF1 gene, known as NF1 microdeletion syndrome, which is responsible for 5–20 % of all patients with neurofibromatosis type. We described a novel microdeletion at 17q11.2 adjacent to NF1 gene in a patient with developmental delay and dysmorphic facial features
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