Family#PresentingHPOs HP:0001263, HP:0002342, HP:0002465, HP:0000729, HP:0001290, HP:0002370, HP:0000574, HP:0000426, HP:0000426, HP:0000637, HP:0000675, HP:0000664, HP:0000545, HP:0001763

FamilyNotHPOs

CountryOrigin Pakistan

Ethnicity

Race

Family#PreviousTesting None

Family#Method1

Family#Method2

Family#GenotypingMethod three affected individuals (V-1, V-3, V-5) and four unaffected individuals (IV-7, IV-8, V-4 and V-6) were genotyped using the Illumina HumanOmniExpress BeadChip.

KaryoStudio program from Illumina Inc. was used to exclude cytogenetic abnormalities, and HBD mapping was performed by using the HomozygosityMapper.

whole exome capturing and sequencing in two affected individuals (V-1 and V-5) identified 1bp deletion at c.6879delT. confirmed by Sanger in affecteds and unaffecteds.

Exclusion of LOF variants in other genes per SFARI gene list.

Potential candidate variants were further validated in additional family members, and Pakistani population controls through Sanger sequencing

Affected 3

Unaffected 2

Segregations 2

PublishedLOD No

eLOD 1.45

AddSegregationInfo Unaffected parents and two unaffected siblings genotyped along with the 3 affected individuals.

ProbandLabel ATM02_V-3

Variant NM_017890.4:c.6879delT

ClinVar

CAID CA4824093

gnomAD 0.00003250 (South Asian)

FamilyAddInfo 3 affected brothers clinically evaluated. 1 underwent biochemical testing.