Case#: 8 year-old Chinese Han boy. At age 3 years physical disabilities began appearing.

DiseaseAssertion: Mucopolysaccharidosis type I, MPS-I

FamilyInfo: Proband is the third child of healthy non-consanguineous parents. Paper states there is "no family history of related genetic diseases." Figure 1 has a pedigree of proband's family.

CasePresentingHPOs: HP:0000280 (coarse facial features), HP:0000256 (macrocephaly), HP:0007957 (corneal clouding), HP:0000158 (macroglossia), HP:0004322 (short stature), HP:0000470 (short neck), HP:0001537 (umbilical hernia), HP:0034392 (joint contracture), HP:0011369 (large Mongolian spot on the back skin), HP:0040079 (irregular teeth), HP:0002240 (hepatomegaly), HP:0034337 (claw hand deformity),

CaseHPOFreeText: Dorsal kyphosis; extreme myopia found via optical examination (visual acuity reached 0.4 in right eye and 0.5 in left eye); thickening of heart valves, mild tricuspid, and aortic valve regurgitation found via Color Doppler ultrasonography; normal intelligence indicated with Wechsler Preschool and Primary Scale of Intelligence scale; cone-shaped phalanges; bilateral coxa vara; small epiphyses on the distal femur and proximal-distal tibiofibula; thin bone cortex; short femoral shaft; multiple diffuse abnormal signals in the bilateral frontal-parietal lobes and left part of the corpus callosum; proband was born at a 3.35 kg weight and 51 cm height

CaseNotHPOs:

CaseNotHPOFreeText: No prominent abnormalities found in blood thyroid hormone levels

CaseEnzymeAssay: "alpha-L-iduronidase activity was significantly decreased in the patient leukocytes (0.65 nmol/h/mg protein)"

CaseUrineGAGs: No urine GAG levels reported for this proband

CaseERT: Don't know

CaseBMT: Don't know

Variant1: c.159‐9T>A

Variant1ClinVarID:

Variant1CAID: CA3044589050

Variant2: c.159‐9T>A

Variant2ClinVarID:

Variant2CAID: CA3044589050

AdditionalVariants: No other pathogenic variants were found/were associated with clinical features

ParentalGenotype: Proband's father is heterozygous for c.159‐9T>A IDUA mutation. DNA from mother and sister of proband showed wild-type allele. Paper states that proband's MPS-I is "caused by UPD(4)pat leading to homozygosity for one pathogenic splicing variant. . ."

PreviouslyPublished: No mention of previous publication