PMID: 23606453

Gene: ANO5

HGNC: 27337

why

confused how you get scores

Confused on null variant

I'm confused how this is so?

Case#: 3 y.o, male, Palestinian-American

DiseaseAssertion: Limb Girdle muscular dystrophy

FamilyInfo: Parents are first cousins. Other two siblings had normal neurologic examination and normal creatine kinase values.

CasePresentingHPOs: HP:0003707, HP:0003701,HP:0003560, HP:0006785, HP:0003236,HP:0003325, HP:0008981, HP:0002515,

CaseHPOFreeText: Bulk was reduced in his shoulder and hip girdle. Bilateral pseudohypertrophy of the calves.

CaseNotHPOs:

CaseNotHPOFreeText:

MotorAchievement: Had a motor delay. Was able to walk well but cant run lifting his knees. Can jump but fell afterwards. Can not raise from without the use of a chair or another person. Walking gait is normal. When he does try to run there is a waddle.

CreatineKinase: 12,323 U/L

CasePreviousTesting:General examination and cranial nerve examination were normal

GenotypingMethod:

PreviouslyPublished:

Variant: NM_000231.2:c.525delT

ClinVar: 189243

PMID: 11261449

Gene: SGCG

HGNC: 10809

Case#: 10 y.o female, Palestinian-American

DiseaseAssertion: Limb Girdle muscular dystrophy

FamilyInfo: Parents are first cousins. Other two siblings had normal neurologic examination and normal creatine kinase values.

CasePresentingHPOs: HP:0003707, HP:0003701,HP:0003560, HP:0006785, HP:0003236,HP:0003325, HP:0008981, HP:0002515,

CaseHPOFreeText:During the physical examination the girl looked alert and aware. Calves were pseudohypertrophy

CaseNotHPOs:

CaseNotHPOFreeText:

MotorAchievement: Learned to walk at 15 months but if she fell couldnt get up. Not able to run by lifting her knees. She fatigued easier than her peers. Can’t stand on one foot. Waddling gait

CreatineKinase: 8,129 U/L

CasePreviousTesting: General examination and cranial nerve examination were normal.

GenotypingMethod: Muscle Biopsy of the quadricep. Immunostaining for sarcoglycan showed particle deficiency. Dystrophin and merson staining were normal

PreviouslyPublished:

Variant: NM_000231.2:c.525delT

ClinVar: 189243

PMID: 11261449

Gene: SGCG

HGNC: 10809

PMID: 33458577

Gene: SGCA

HGNC: 10805

Case#: 31 y.o Female European

DiseaseAssertion: Limb Girdle

FamilyInfo: Asymptomatic uncle who had persistent high serum CK levels

CasePresentingHPOs: HP:0003701,HP:0003560, HP:0006785, HP:0003236,HP:0003325, HP:0008981,

CaseHPOFreeText: Has seen a specialist for the last 25 years. High CADD scores. Exercise-induced myalgia and/or rhabdomyolysis

CaseNotHPOs:

CaseNotHPOFreeText:

MotorAchievement:

CreatineKinase: Ranging from 500 UI/L to 4500 UI/L

CasePreviousTesting: Latest neurological, cardiac and respiratory examinations were normal

GenotypingMethod: Muscle Biopsy using next generation sequencing and multiple gene panel. Minimal myopathic changes on histological assessment and normal immunofluorescence staining for muscle proteins including α-sarcoglycan.

PreviouslyPublished:

Variant: NM_000023.4(SGCA):c.850C>T (p.Arg284Cys) and NM_000023.4(SGCA):c.739G>A (p.Val247Met)

ClinVar: 9439 and 167677

CAID:

gnomAD: 0.0007716 and 0.0002411

Case#: 36 y.o male European

DiseaseAssertion: Limb Girdle

FamilyInfo: None

CasePresentingHPOs: HP:0003701,HP:0003560, HP:0006785, HP:0003236,HP:0003325, HP:0008981,

CaseHPOFreeText: Experienced two episodes of atrial fibrillation. High CADD scores. Exercise-induced myalgia and/or rhabdomyolysis

CaseNotHPOs:

CaseNotHPOFreeText:

MotorAchievement: Age 20 he developed exercise intolerance and sporadic myoglobinuria after intense exercise. Able to walk and cycle for long distances with little muscle pain.

CreatineKinase: Ranging from 1700 to 8000 UI/L), at the age of 10 years

CasePreviousTesting: Last neurological examination there was moderate calf hypertrophy.

GenotypingMethod: Muscle Biopsy using next generation sequencing and multiple gene panel. Minimal myopathic changes on histological assessment and normal immunofluorescence staining for muscle proteins including α-sarcoglycan

PreviouslyPublished:

Variant: NM_000023.4(SGCA):c.850C>T (p.Arg284Cys)

ClinVar: 9439

CAID:

gnomAD: 0.0007716