Family#PresentingHPOs HP:0001263, HP:0010864, HP:0002370, HP:0000664, HP:0000675, HP:0000545, HP:0001763, HP:0008763, HP:0000430, HP:0012471, HP:0000331, HP:0000303, HP:0000662, HP:0000529, HP:0011228

Absent or single-word speech, box-shaped face

FamilyNotHPOs

CountryOrigin Pakistani

Ethnicity

Race

Family#PreviousTesting None

Family#Method1

Family#Method2

Family#GenotypingMethod DNA samples from three affected (V-2, VI-2, VI-3) and two unaffected individuals (V-3, V-4), were genotyped using the Affymetrix Genome-Wide Human SNP 6.0 microarray.

homozygosity-by-descent (HBD) or autozygosity mapping and copy number variation (CNV) analysis was performed using dChip software.

direct Sanger sequencing of VPS13B was performed, based on homozygosity mapping results, for all 62 exons and splice junctions of VPS13B.

Potential candidate variants were further validated in Pakistani population controls through Sanger sequencing.

Affected 2

Unaffected 0

Segregations 1

PublishedLOD No

eLOD 0.6

AddSegregationInfo Pedigree in Figure 1. 5 affected and 3 unaffected individuals clinically determined.

ProbandLabel RQMR10_V-2

Variant NM_017890.4:c.6879delT(p.Phe2293Leufs*24)

ClinVar

CAID CA4824093

gnomAD 0.00003250 (South Asian)

FamilyAddInfo Complete biochemical testing in affected and unaffected. neurological, psychological, ophthalmological, skeletal, behavioral, dental examinations in affecteds. RQMR10_VI-2 underwent fundoscopic examination.