Appendix 2

Clinical features of all subjects listed individually

Family No Initials Sex Year of birth Weight at birth (g) Age at referral Reason for referral Age at onset of lipo Age at onset of diabetes mellitus Intellectual impairment Other clinical features Age at death Cause of death Ethnic background Parental consang
BSCL1
1* 1 FV F 1974 3100 6 mth Failure to thrive 3 mth 26 y Moderate Bone cysts, microcephaly Belgian Y
2* 2 WX M 1977 2760 5 mth Lipoatrophy Birth Hypertrophic cardiomyopathy African - Caribbean N
3* 3 ZC F 1987 7 y Diabetes 7 y Algerian N
4* 4 DC F 1968 5 y Weight loss 5 y 13 y Pancreatitis (at 7 y) African - mixed N
5* 5 DiH F 1972 11 y Diabetes mellitus 2 mth 7 y Mild Bone cysts African - Senegal Y
6 DiI M 1984 2570 6 wk Lipoatrophy, family history Birth Transient hypergly-caemia at birth African - Senegal Y
7 DiN F 1987 9 mth Lipoatrophy, family history Birth African - Senegal Y
6* 8 AL F 1983 2550 2 wk Lipoatrophy Birth Normal cardiac ultrasound, clitoromegaly African - Ghana N
7* 9 J F 1990 Birth Moroccan Y
8* 10 Rd M 1991 Birth Turkish Y
9* 11 HL F 1962 3 y Lipoatrophy 3 wk Bone cysts African-American N
12 HHD F 1965 9 mth Family history Birth Bone cysts African-American N
13 HRD M 1969 6 y Family history African-American N
10* 14 M F 1990 3300 5 mth Lipoatrophy Birth Tunisian Y
11* 15 OU F 1964 23 y Diabetes mellitus 23 y 23 y Hypertrophic cardiomyopathy Algerian Y
12* 16 SMG F 1994 9 mth Gigantism, lipoatrophy Birth Clitoromegaly German (Brazil) Y
13* 17 VV F 1975 3000 4 y Gigantism, precocious puberty Birth Bone cysts, goitre, macrocephaly African-Indian (Caribbean) N
14* 18 BJ M 1993 2900 3 mth Abdominal pain, hepatomegaly Birth Hypertrophic cardiomyopathy African-Nigerian (France) N
15* 19 EF M 1996 3440 3 mth Facial dysmorphism, hepatomegaly 3 mth Hypertrophic cardiomyopathy Turkish Y
16* 20 PH F 1970 22 y Diabetes 17 y 22 y Dutch (South Africa) N
17* 21 ZA F 6 mth Lipoatrophy Birth Moroccan (France) Y
Family No Seipin amino acid change Type of seipin mutation Initials Sex Year of birth Weight at birth (g) Age at referral Reason for referral Age at onset of lipo Age at onset of diabetes mellitus Intellectual impairment Other clinical features Age at death Cause of death Ethnic background Parental consang
BSCL2
1 1 R138X/ R138X Non MALF F 1965 Normal 24 y Diabetes, acromegaloid features 6 mth 24 y /No Mild Hypertrophic cardiomyopathy Portuguese Y
2 R138X/ R138X Non ML F 1967 Normal 20 y Diabetes Infancy 15 y Mild Multinodular goitre Portuguese Y
2 3 R138X/ R138X Non HSDM F 1980 15 y Diabetes Infancy 15 y Mild Portuguese Y
3 4 F63fsX75/ F63fsX75 Ins-del DD M 1982 2900 Birth Lipoatrophy Birth Moderate Hypertrophic cardiomyopathy Italian (Sicily) Y
4 5 DV99-S146/ DV99-S146 Splice site AS M 1981 3120 3 mth Rickets Birth Moderate Persistent mullerian ducts, vitamin D resistant rickets 14 y Heart failure Turkish Y
5 6 R138X/ R138X Non FJ M 1992 3040 6 mth Dysmorphism First year No (IQ 101) Waddling gait, prognathism, hypertrophic cardiomyopathy Portuguese (France) Y
7 R138X/ R138X Non FS M 1996 3490 2 mth Family history No (IQ 101) Waddling gait, surgical cure of macroglossia, hypertrophic cardiomyopathy Portuguese (France) Y
6 8 Ala212Pro/ Ala212Pro Miss AE F 1952 2000 at 33w Birth Lipoatrophy Birth 12 y Mild Hypertrophic cardiomyopathy 32 y Post-intoxication renal failure, pneumonia Norwegian N
9 Ala212Pro/ Ala212Pro Miss ME M 1957 4000 1 y Develop-
 mental delay Birth Angina pectoris, bone cysts Norwegian N
7 10 F63fsX75/ F63fsX75 Ins-del KS M 1957 2500 Lipoatrophy Birth 14 y Moderate Hypertrophic cardiomyopathy, bone cysts 35 y Renal failure Norwegian N
8 11 Ala212Pro/ Ala212Pro Miss LSN M 1959 4100 Birth Moderate Hypertrophic cardiomyopathy Norwegian N
9 12 Ala212Pro/ Ala212Pro Miss IT F 1961 3000 5 mth Enlarged tonsils Birth Hypertrophic cardiomyopathy 24 y Heart failure during pregnancy Norwegian N
13 Ala212Pro/ Ala212Pro Miss TH M 1966 4030 2.5 mth Lipoatrophy Birth Moderate Hypertrophic cardiomyopathy Norwegian N
10 14 Ala212Pro/ F63fsX75 Miss/ ins-del OE F 1973 3550 2 mth Lipoatrophy Birth Mild Bone cysts Norwegian Y
11 15 F105fsX111/ F105fsX111 Del Tba M 1991 3000 3 y Lipoatrophy Birth Moderate (IQ 40) Lebanese Y
16 F105fsX111/ F105fsX111 Del TCh M 1994 3000 9 mth Lipoatrophy Birth Mild Lebanese Y
17 F105fsX111/ F105fsX111 Del Tfa M 1968 2800 31 y Family history Birth 31 y Mild Lebanese Y
12 18 F105fsX111/ F105fsX111 Del ElA M 1989 2200 7 mth Lipoatrophy Birth Mild Lebanese Y
19 F105fsX111/ F105fsX111 Del EIAN M 1995 6 mth Lipoatrophy Birth Mild Lebanese Y
13 20 F105fsX111/ F105fsX111 Del SJ F 1993 2250 3 mth Lipoatrophy hepato-megaly Birth Moderate Lebanese Y
21 F105fsX111/ F105fsX111 Del SR F 1999 2400 2 mth Lipoatrophy hepato-megaly Birth 4 mth Sepsis Lebanese Y
14 22 F105fsX111/ F105fsX111 Del Jfa F 1987 3000 2 y Birth 8.5 y Mild Lebanese Y
15 23 F105fsX111/ F105fsX111 Del SSt F 1997 3120 Birth Lipoatrophy & family history Birth Moderate Precocious puberty at 4 y, hirsutism, liver cirrhosis, hypertrophic cardiomyopathy Lebanese (USA) Y
24 F105fsX111/ F105fsX111 Del SSe M 1996 3330 1 mth Lipoatrophy Birth Moderate Liver cirrhosis, hypertrophic cardiomyopathy Lebanese (USA) Y
16 25 F105fsX111/ F105fsX111 Del FE M 1987 3500 9 mth Hepato-megaly, acanthosis nigricans Birth 12 y Mild Lebanese Y
26 F105fsX111/ F105fsX111 Del AS F 1969 Birth 24 y Mild 31 y Liver cirrhosis Lebanese Y
27 F105fsX111/ F105fsX111 Del AG F 1972 Birth 26 y Mild Lebanese Y
28 F105fsX111/ F105fsX111 Del HS M 1989 2700 2 mth Birth Mild Lebanese Y
29 F105fsX111/ F105fsX111 Del HP M 1992 3000 2 mth 1 mth Mild Lebanese Y
30 F105fsX111/ F105fsX111 Del GR M 2000 3200 1 mth Mild Lebanese Y
31 F105fsX111/ F105fsX111 Del GG M 1966 3100 33 y Family history Birth Mild 31 y Heart failure Lebanese Y
32 F105fsX111/ F105fsX111 Del Gba F 1968 3000 31 y Family history Birth 28 y Mild Lebanese Y
33 F105fsX111/ F105fsX111 Del Gbc M 1971 3200 28 y Family history Birth Mild Lebanese Y
34 F105fsX111/ F105fsX111 Del She F 1966 2500 9 mth Lipoatrophy Birth Mild Lebanese Y
35 F105fsX111/ F105fsX111 Del SEI M 1998 2500 1 mth Lipoatrophy & family history 1 mth Mild Lebanese Y
17 36 F213fsX231/ F213fsX231 Del SN M 1985 4 mth Organo- megaly Birth 15 y Normal cardiac ultrasound Indian (UK) Y
18 37 F101 fsX111/ F101 fsX111 Ins MDSM F 1960 Normal 29 y Diabetes 3 mth 29 y Portuguese (Brazil) Y
19 38 F108fsX113/ F108fsX113 Ins DSF M 1975 3320 6 y Diabetes 1 y 6 y Moderate Portuguese (South Africa) Y
20 39 F108fsX113/ F108fsX113 Ins GD F 1981 2 mth Lipoatrophy Birth 14 y Portuguese (South Africa) N
21 40 Del exons 4–6 Del HM twin 41 M 1990 2320 at 37 wk 5 mth Failure to thrive Birth Mild IUGR, polyhydramnios Portuguese (France) Y
41 Del exons 4–6 Del HD twin 40 M 1990 2050 at 37 wk 5 mth Failure to thrive Birth Mild IUGR, polyhydramnios Portuguese (France) Y
22 42 F105fsX112/ del E5-6 Del/del RA F 1970 Birth Lipoatrophy 3–6 mth 13 y Moderate Portuguese (France) N
23 43 F224ΔY225-
 Q271fsX288 Splice EL M 2000 Birth Lipoatrophy Birth Severe psychomotor delay, pyramidal signs Turkish Y
24 44 F63fsX75/ F224fsX225 Ins-del/ splice WM M 1985 4700 6 mth Lipoatrophy Birth British N
45 F63fsX75/ F224fsX225 Ins-del/ splice WF F 1989 3800 Birth Family history Birth British N
Family No Initials Sex Year of birth Weight at birth (g) Age at referral Reason for referral Age at onset of lipo Age at onset of diabetes mellitus Intellectual impairment Other clinical features Age at death Cause of death Ethnic background Parental consang
BSCLX
1 1 HP F 1980 2950 1 y Failure to thrive 1 y 2 y Liver cirrhosis, thick, curly hair 7.5 y Liver failure Czech Republic N
2 2 RJ F 1985 3250 Birth Family history Birth Bone cysts Belgian N
3 RK F 1983 2350 13 mth Failure to thrive 5 wk Bone cysts Belgian N
Family No Initials Sex Year of birth Weight at birth (g) Age at referral Reason for referral Age at onset of lipo Age at onset of diabetes mellitus Intellectual impairment Other clinical features Age at death Cause of death Ethnic background Parent consang
Non-informative
1 1 SV M 1992 2100 at 37 wk Birth IUGR, hepatosplenomegaly Birth Moderate Liver steatosis, hypertrophic cardiomyopathy 19 mth Cardiac failure Czech Republic